GENETIC ENCYCLOPEDIA
ABOUT US    

   

disease: Leber congenital amaurosis 2

id5384
nameLeber congenital amaurosis 2
variant-disease NM_000329.2(RPE65):c.1292A>G (p.Tyr431Cys) AND Leber congenital amaurosis 2
NM_000329.2(RPE65):c.700C>T (p.Arg234Ter) AND Leber congenital amaurosis 2
NM_000329.2(RPE65):c.1102T>C (p.Tyr368His) AND Leber congenital amaurosis 2
NM_000329.2(RPE65):c.556G>A (p.Asp186Asn) AND Leber congenital amaurosis 2
NM_000329.2(RPE65):c.11+5G>A AND Leber congenital amaurosis 2
... 29 more